Variant report

Variant	nsv550663
Chromosome Location	chr10:42664245-42680407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:719)
CpG islands
(count:306)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42664499-42666109	GM12878	blood:	n/a	chr10:42665305-42665316
2	BATF	chr10:42678393-42678733	GM12878	blood:	n/a	n/a
3	BATF	chr10:42676274-42676463	GM12878	blood:	n/a	n/a
4	BATF	chr10:42673852-42674316	GM12878	blood:	n/a	n/a
5	BATF	chr10:42666434-42667002	GM12878	blood:	n/a	n/a
6	BATF	chr10:42663387-42664486	GM12878	blood:	n/a	n/a
7	BATF	chr10:42677087-42677277	GM12878	blood:	n/a	n/a
8	BATF	chr10:42673879-42674402	GM12878	blood:	n/a	n/a
9	BATF	chr10:42661279-42666179	GM12878	blood:	n/a	chr10:42665305-42665316
10	BATF	chr10:42678782-42679680	GM12878	blood:	n/a	n/a
11	BATF	chr10:42666306-42667023	GM12878	blood:	n/a	n/a
12	BATF	chr10:42676678-42677222	GM12878	blood:	n/a	n/a
13	BATF	chr10:42671037-42671253	GM12878	blood:	n/a	n/a
14	BATF	chr10:42667213-42667659	GM12878	blood:	n/a	n/a
15	BATF	chr10:42676194-42676528	GM12878	blood:	n/a	n/a
16	BATF	chr10:42678896-42679605	GM12878	blood:	n/a	n/a
17	BATF	chr10:42667064-42667644	GM12878	blood:	n/a	n/a
18	BCL11A	chr10:42674588-42674874	GM12878	blood:	n/a	n/a
19	BCL11A	chr10:42667099-42667656	GM12878	blood:	n/a	n/a
20	BCL11A	chr10:42677876-42678057	GM12878	blood:	n/a	n/a
21	BCL11A	chr10:42666418-42667036	GM12878	blood:	n/a	n/a
22	BCL11A	chr10:42677828-42678108	GM12878	blood:	n/a	n/a
23	BCL11A	chr10:42674640-42674904	GM12878	blood:	n/a	n/a
24	BCL11A	chr10:42664523-42666119	GM12878	blood:	n/a	n/a
25	BCL11A	chr10:42678781-42679602	GM12878	blood:	n/a	n/a
26	BCL11A	chr10:42676707-42676961	GM12878	blood:	n/a	n/a
27	BCL11A	chr10:42676208-42676416	GM12878	blood:	n/a	n/a
28	BCL11A	chr10:42679981-42680151	GM12878	blood:	n/a	n/a
29	BCL11A	chr10:42676056-42676510	GM12878	blood:	n/a	n/a
30	BCL11A	chr10:42663146-42664513	GM12878	blood:	n/a	n/a
31	BCL11A	chr10:42673892-42674312	GM12878	blood:	n/a	n/a
32	BCL11A	chr10:42678728-42679747	GM12878	blood:	n/a	n/a
33	BCL11A	chr10:42673810-42674313	GM12878	blood:	n/a	n/a
34	BCL11A	chr10:42667269-42667681	GM12878	blood:	n/a	n/a
35	BCL11A	chr10:42664692-42665853	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:42677046-42677285	GM12878	blood:	n/a	n/a
37	BHLHE40	chr10:42664114-42664435	HepG2	liver:	n/a	n/a
38	BHLHE40	chr10:42665164-42665737	HepG2	liver:	n/a	n/a
39	BHLHE40	chr10:42664558-42665152	HepG2	liver:	n/a	n/a
40	BHLHE40	chr10:42679059-42679552	HepG2	liver:	n/a	n/a
41	BHLHE40	chr10:42666425-42666810	HepG2	liver:	n/a	n/a
42	BHLHE40	chr10:42673799-42674154	HepG2	liver:	n/a	n/a
43	CEBPD	chr10:42664067-42664520	K562	blood:	n/a	n/a
44	CEBPD	chr10:42665462-42665786	K562	blood:	n/a	n/a
45	CEBPD	chr10:42664665-42665194	K562	blood:	n/a	n/a
46	CTCF	chr10:42679386-42679486	Fibrobl	skin:	n/a	n/a
47	CTCF	chr10:42679400-42679550	GM12875	blood:	n/a	n/a
48	CTCF	chr10:42673840-42673990	NHEK	skin:	n/a	chr10:42673947-42673965 chr10:42673949-42673970 chr10:42673948-42673964
49	CTCF	chr10:42673800-42673950	AG09309	skin:	n/a	n/a
50	CTCF	chr10:42679328-42679339	HepG2	liver:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42672859-42672909	AG09309	skin:	n/a
2	chr10:42672859-42672909	AG09309	skin:	n/a
3	chr10:42673902-42673952	MCF10A-Er-Src	breast:	n/a
4	chr10:42677108-42677158	HEEpiC	esophagus:	n/a
5	chr10:42672859-42672909	PFSK-1	brain:	n/a
6	chr10:42672859-42672909	CMK	blood:	n/a
7	chr10:42672589-42672639	HRPEpiC	eye:	n/a
8	chr10:42672859-42672909	GM06990	blood:	n/a
9	chr10:42677108-42677158	Hela-S3	cervix:	n/a
10	chr10:42670961-42671011	BE2_C	brain:	n/a
11	chr10:42670961-42671011	IMR90	lung:	fetal
12	chr10:42673902-42673952	PANC-1	pancreas:	n/a
13	chr10:42670961-42671011	SKMC	muscle:	n/a
14	chr10:42672589-42672639	H1-hESC	embryonic stem cell:	embryo
15	chr10:42670961-42671011	HCT-116	colon:	n/a
16	chr10:42677108-42677158	SK-N-SH_RA	brain:	n/a
17	chr10:42670961-42671011	HUVEC	blood vessel:	n/a
18	chr10:42677108-42677158	T-47D	breast:	n/a
19	chr10:42673902-42673952	HRCEpiC	kidney:	n/a
20	chr10:42677108-42677158	SK-N-MC	brain:	n/a
21	chr10:42677108-42677158	ProgFib	skin:	n/a
22	chr10:42677108-42677158	PANC-1	pancreas:	n/a
23	chr10:42677108-42677158	H1-hESC	embryonic stem cell:	embryo
24	chr10:42672589-42672639	NHDF-neo	bronchial:	n/a
25	chr10:42677108-42677158	Hepatocyte	liver:	n/a
26	chr10:42672589-42672639	MCF10A-Er-Src	breast:	n/a
27	chr10:42673902-42673952	SAEC	small airway:	n/a
28	chr10:42673902-42673952	AG04449	skin:	fetal
29	chr10:42677108-42677158	HAEpiC	amniotic membrane:	n/a
30	chr10:42670961-42671011	AG10803	skin:	n/a
31	chr10:42672589-42672639	HAEpiC	amniotic membrane:	n/a
32	chr10:42672589-42672639	MCF-7	breast:	n/a
33	chr10:42670961-42671011	AG09309	skin:	n/a
34	chr10:42672859-42672909	A549	lung:	n/a
35	chr10:42672589-42672639	AoSMC	blood vessel:	n/a
36	chr10:42677108-42677158	NT2-D1	testis:	n/a
37	chr10:42672859-42672909	HEK293	kidney:	embryo
38	chr10:42672859-42672909	HAEpiC	amniotic membrane:	n/a
39	chr10:42672859-42672909	GM12891	blood:	n/a
40	chr10:42670961-42671011	AG09319	gingival:	n/a
41	chr10:42673902-42673952	HCPEpiC	choroid plexus:	n/a
42	chr10:42672859-42672909	Hepatocyte	liver:	n/a
43	chr10:42677108-42677158	NHDF-neo	bronchial:	n/a
44	chr10:42677108-42677158	U87	brain:	n/a
45	chr10:42673902-42673952	HAEpiC	amniotic membrane:	n/a
46	chr10:42672859-42672909	MCF-7	breast:	n/a
47	chr10:42672589-42672639	ovcar-3	ovarian:	n/a
48	chr10:42672859-42672909	HL-60	blood:	n/a
49	chr10:42672859-42672909	HPAEpiC	pulmonary alveolar:	n/a
50	chr10:42672859-42672909	NH-A	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:42673795..42674377-chr10:42765091..42765784,2	MCF-7	breast:
2	chr10:42673929..42674445-chr10:43600657..43601190,2	K562	blood:

No data

Variant related genes	Relation type
IGKV1OR10-1	TF binding region
IGKV1OR10-1	CpG island

Extended variants
information (count: 1337 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559189994	chr10:42664255-42664256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528227929	chr10:42664256-42664257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541540330	chr10:42664284-42664285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61846255	chr10:42664318-42664319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561703346	chr10:42664344-42664345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142732144	chr10:42664349-42664350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377329778	chr10:42664350-42664351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530483552	chr10:42664351-42664352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550517203	chr10:42664365-42664366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374452782	chr10:42664368-42664369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199859244	chr10:42664369-42664370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532609025	chr10:42664372-42664373	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77849811	chr10:42664378-42664379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370553551	chr10:42664379-42664380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77780390	chr10:42664388-42664389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75084229	chr10:42664391-42664392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113466905	chr10:42664394-42664395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566141288	chr10:42664395-42664396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180677582	chr10:42664398-42664399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80091924	chr10:42664404-42664405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367941065	chr10:42664405-42664406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111542728	chr10:42664412-42664413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77945974	chr10:42664416-42664417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113043307	chr10:42664417-42664418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77207670	chr10:42664418-42664419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554625641	chr10:42664421-42664422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111852827	chr10:42664442-42664443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568126872	chr10:42664443-42664444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374886608	chr10:42664449-42664450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77631738	chr10:42664454-42664455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371672728	chr10:42664465-42664466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537016173	chr10:42664477-42664478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74858110	chr10:42664481-42664482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78746088	chr10:42664484-42664485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78018742	chr10:42664486-42664487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79960651	chr10:42664492-42664493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556839881	chr10:42664497-42664498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79322933	chr10:42664501-42664502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375061317	chr10:42664505-42664506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137872168	chr10:42664509-42664510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545769703	chr10:42664516-42664517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80144771	chr10:42664525-42664526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79738973	chr10:42664529-42664530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552584519	chr10:42664539-42664540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76003647	chr10:42664544-42664545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145960732	chr10:42664548-42664549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78486062	chr10:42664552-42664553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75861451	chr10:42664554-42664555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75627176	chr10:42664557-42664558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541925198	chr10:42664577-42664578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42655800-42668200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42660000-42668200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr10:42660400-42668000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:42660400-42668000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr10:42660600-42668000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:42661000-42667600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr10:42661200-42664400	ZNF genes & repeats	Brain Angular Gyrus	brain
8	chr10:42661200-42667000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr10:42661200-42667200	ZNF genes & repeats	Brain Substantia Nigra	brain
10	chr10:42661200-42667400	ZNF genes & repeats	K562	blood
11	chr10:42661200-42667600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr10:42661200-42667600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:42661200-42667600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr10:42661200-42667600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr10:42661200-42667600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr10:42661200-42667600	ZNF genes & repeats	Fetal Brain Male	brain
17	chr10:42661200-42667600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr10:42661200-42667800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr10:42661200-42667800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:42661200-42667800	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr10:42661200-42667800	ZNF genes & repeats	Fetal Heart	heart
22	chr10:42661200-42667800	ZNF genes & repeats	Fetal Lung	lung
23	chr10:42661200-42668000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr10:42661200-42668200	ZNF genes & repeats	Liver	Liver
25	chr10:42661400-42667200	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr10:42661400-42667200	ZNF genes & repeats	GM12878-XiMat	blood
27	chr10:42661400-42667400	ZNF genes & repeats	HepG2	liver
28	chr10:42661400-42667600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
29	chr10:42661400-42667600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr10:42661400-42667600	ZNF genes & repeats	Fetal Kidney	kidney
31	chr10:42661400-42667600	ZNF genes & repeats	HUVEC	blood vessel
32	chr10:42661400-42667800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
33	chr10:42661600-42666800	Weak transcription	NHDF-Ad	bronchial
34	chr10:42666000-42667600	ZNF genes & repeats	Gastric	stomach
35	chr10:42666800-42667400	ZNF genes & repeats	NH-A	brain
36	chr10:42666800-42667600	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr10:42667200-42667600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr10:42667200-42667600	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr10:42667800-42668200	Weak transcription	NHDF-Ad	bronchial
40	chr10:42668000-42668200	Weak transcription	Fetal Lung	lung
41	chr10:42668000-42668400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:42668200-42673400	Weak transcription	Liver	Liver
43	chr10:42672400-42672600	Active TSS	Psoas Muscle	Psoas
44	chr10:42672600-42672800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr10:42672600-42672800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
46	chr10:42672600-42672800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:42672600-42672800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:42672600-42672800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:42672600-42672800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:42672600-42673000	Enhancers	Primary B cells from peripheral blood	blood

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